Birthmarks, Bumps and Beyond

Elena B. Hawryluk, MD, PhD April 2021

www.mghcme.org Disclosures

My spouse/partner and I have the following relevant financial relationship with a commercial interest to disclose:

Gritstone Oncology (salary, stock) Path AI (stock) UpToDate (royalty) Purity Brands (consultant)

www.mghcme.org Infantile Hemangioma

▪ Not present at birth ▪ Appears after few weeks of life ▪ Maximum size reached by 3-6 months ▪ Majority regress by 5-7 yrs. of age ▪ Most common tumor of infancy - 4 % of all children

www.mghcme.org Risk dictates management

High Risk Intermediate Risk ▪ > 5 cm on face, ▪ Lateral face, scalp, hands, lumbosacral area feet ▪ Bulky lesion on face ▪ Body folds ▪ Early white discoloration ▪ >5 cm trunk, arms, legs ▪ Central face ▪ Periorbital, perinasal, Low Risk perioral ▪ Trunk, arms, legs

www.mghcme.org Multifocal Hemangiomas

▪ Established association between multiple cutaneous IH with hepatic hemangiomas ▪ Mortality 11-18% ▪ Screen for 5+ cutaneous IH ▪ If large burden - Thyroid function test —increased levels of a catalyst of a thyroid- inactivating enzyme (iodothyronine deiodinase) have been detected in cutaneous hemangioma tissues, large hepatic hemangiomas

www.mghcme.org Workup/Considerations

• Early diagnosis – maximize options for management

• Multiple hemangiomas – Abdominal ultrasound for hepatic involvement, thyroid testing • Large regional hemangiomas – PHACE: cardiac/aortic echo, MRI/MRA brain, ophtho eval – LUMBAR: CT abdomen, renal/urologic workup – Airway: ENT/scope

• Later considerations: surgery, laser of residual lesions

www.mghcme.org Treatment: Early Discussion is KEY

▪ Propranolol ▪ Oral corticosteroids ▪ Timolol ▪ Intralesional corticosteroids ▪ Wound care, pain control for ulcerated hemangiomas ▪ Pulsed dye laser ▪ Excision

www.mghcme.org Topical Timolol

Timolol 0.5% gel forming solution (off label use) ▪ 1-2 drops TOP BID ▪ Do not use on ulcerated hemangioma (absorption) ▪ Most common complaints: dryness, white peeling of medication on skin ▪ Effective for superficial hemangiomas (not absorbed well)

www.mghcme.org Pulsed Dye Laser

• Reduces redness • 595 nm targets blood vessels, set pulse duration according to vessel width • Series of treatments every 6-8 weeks. Can perform under local anesthesia (eye protection needed) • Controversy re: use during ulceration • No sun exposure/tanning • Each treatment causes “bruising” – appears more purple, redness fades over 6-8 weeks

www.mghcme.org Capillary Malformation

www.mghcme.org My favorite pediatric pigmented lesions! • Congenital • Atypical or • Nevus spilus •

www.mghcme.org Nevi – Congenital nevus

• Nevus is present at birth

• Slightly increased risk of (skin or CNS) depending on number of lesions, size

• Small: <1.5 cm • Medium: 1.5-20 cm • Large: 20-40cm, Giant >40 cm

www.mghcme.org Nevi – Atypical or Dysplastic nevus

• Abnormal features clinically or on pathology

• Melanoma risk: – single dysplastic nevus increases risk by 2X – having ≥10 increases risk by 12X - Tucker et al, 1997

www.mghcme.org Nevi – Atypical or Dysplastic nevus

• NOT a “pre-melanoma”

• However, these nevi are markers for increased risk of developing melanoma!

www.mghcme.org Nevi – Halo nevus

• Immunological destruction of melanocytes and nevus cells

• Multiple halo nevi confer a higher risk of vitiligo and other autoimmune diseases

• Halo typically can persist an average of 7.8 years, with eventual involution and return to normal-appearing skin

www.mghcme.org Nevi – Nevus spilus

• Presents in early childhood like a café-au-lait patch, with development of brown papules and macules within

www.mghcme.org Nevi – Spitz nevus

• “melanoma of childhood”

• Common Spitz nevi may be monitored clinically

• Those with clinically unusual, changing, or concerning features are biopsied

www.mghcme.org ABCD Criteria for Melanoma Detection

Traditional MM Pediatric MM • Asymmetry • Amelanotic • Border • Bump, Bleeding • Color Variegation • Color uniformity • Diameter > 6mm • De novo, any Diameter • Evolution/Change Cordoro K et al. JAAD June 2013

www.mghcme.org CUP Criteria for Pediatric Melanoma

Standard ABCDE criteria plus: • Color that is pink/red, Changing • Ulceration, Upward thickening • Pyogenic granuloma-like, Pop-up of new lesions

Silverberg NB, McCuaig CC. Cutis 2013

www.mghcme.org Evolution is biggest clue!

PATH: Spitzoid melanoma, 3.5mm, level IV, ulcerated, 14 mitoses/mm2

Bartenstein et al, 2017

www.mghcme.org